Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542715 | SCV000644268 | benign | Tuberous sclerosis 2 | 2023-06-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395406 | SCV002704022 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-12-14 | criteria provided, single submitter | clinical testing | The p.D549G variant (also known as c.1646A>G), located in coding exon 15 of the TSC2 gene, results from an A to G substitution at nucleotide position 1646. The aspartic acid at codon 549 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV003314613 | SCV004014182 | uncertain significance | not provided | 2023-01-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |